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Miquel Anglada-Girotto

@m1quelag.bsky.social
377 followers 1.7K following 56 posts

Love predicting genomic things. Postdoc @crgenomica.bsky.social at the Probabilistic Machine Learning and Genomics group. Creator of @splicingnews.bsky.social

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Reposted by Miquel Anglada-Girotto
Ezequiel Galpern @eag91.bsky.social · 25/09/2026
🧬 What do deep-learning models for proteins actually learn? Our new review looks at how model predictions relate to fitness, folding stability and function. With @cwjpugh.bsky.social, Mafalda Dias & @jonnyfrazer.bsky.social 🔗 chemrxiv.org/doi/full/10....
chemrxiv.org
From sequences and structures to fitness, folding and function: challenges in the age of AI | ChemRxiv
Deep-learning models have transformed our ability to predict the phenotypic effects of sequence perturbations. Protein language models (pLMs) score the evolutionary propensity of any amino-acid substi...
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Reposted by Miquel Anglada-Girotto
Ezequiel Galpern @eag91.bsky.social · 05/08/2026
1/ New preprint! with @solersanchisx.bsky.social @cwjpugh.bsky.social @federicobilleci.bsky.social @jonnyfrazer.bsky.social and Mafalda Dias, we introduce a scalable framework to improve stability prediction and separate folding from functional constraints. www.biorxiv.org/content/10.6...
biorxiv.org
Blending physics-based and inverse folding models to disentangle variant effects on stability and function
Protein sequences are constrained not only by the need to fold into stable structures, but also by specific functional requirements imposed by natural selection. Yet predictions of how amino-acid chan...
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Miquel Anglada-Girotto @m1quelag.bsky.social · 28/07/2026
1/ We’ve been working on making it easier to fine-tune AlphaGenome on new RNA-seq samples, with a focus on one of my favourite regulatory layers: splicing! Blog post: genomicsxai.github.io/blogs/2026-0...
genomicsxai.github.io
Beyond coverage tracks: fine-tuning AlphaGenome's splicing heads from scratch
Summary DeepMind has released AlphaGenome’s code and model weights, and the community has since developed alphagenome_ft and alphagenome-pytorch to enable seamless fine-tuning in both JAX and PyTorch....
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Reposted by Miquel Anglada-Girotto
bioRxiv Genomics @biorxiv-genomic.bsky.social · 24/05/2026
OpenSplice: the impact of half a million mutations on the alternative splicing of 600 human exons www.biorxiv.org/content/10.64898/20…
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Miquel Anglada-Girotto @m1quelag.bsky.social · 01/04/2026
Many regulatory layers modulate splicing factors at the same time impacting their activity. How can we quantify it? Apparently "functional" target exons give us a hint and uncover two cancer programs. Have a look at our solution: www.nature.com/articles/s41...
nature.com
Exon inclusion signatures enable accurate estimation of splicing factor activity - Nature Communications
Splicing factors shape how genes are stitched into RNA, but their activity is hard to measure. Here, the authors benchmark network methods and show exon-inclusion signatures infer splicing factor acti...
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Reposted by Miquel Anglada-Girotto
Ezequiel Galpern @eag91.bsky.social · 01/04/2026
Why are there 20 amino acids and 4 nucleotides? Combining Energy Landscape and Molecular Information theories provides constraints to the alphabet size of an evolving biopolymer, given its physico-chemical properties... Read more in our new article: www.nature.com/articles/s41...
nature.com
An information-theoretic argument for the restriction of the current biological alphabets to 4 nucleotides and 20 amino acids - Scientific Reports
Life as we know it is based on foldable biopolymers encoded with just 4 nucleotides or 20 amino acids. Evolution of these biopolymers requires effective and fast search of both the conformational spac...
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Reposted by Miquel Anglada-Girotto
Universitat de Barcelona @ub.edu · 03/03/2026
#UBalsMitjans | 👌 @elpuntavui.cat entrevista Raúl Ruiz, estudiant de Bioquímica i professor de llengua de signes catalana, que ha coordinat un vocabulari de termes científics a la #UniBarcelona. «És una llengua pròpia, totalment vàlida per crear terminologia en àmbits especialitzats», afirma Ruiz.
elpuntavui.cat
"La llengua de signes s'hauria d'estudiar a totes les escoles"
"El 2010 la llengua de signes catalana es va reconèixer a través d'una llei però això és teòric, falta portar-ho a la pràctica" "És important veure la llengua de signes catalana des de la perspectiva...
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Reposted by Miquel Anglada-Girotto
Jonathan Frazer @jonnyfrazer.bsky.social · 24/11/2025
popEVE is out in Nature Genetics! 🎉 We built a proteome-wide model that combines cross-species and human population variation to rank missense variants by disease severity and help diagnose rare genetic disorders. rdcu.be/eRu7K
rdcu.be
Proteome-wide model for human disease genetics
Nature Genetics - popEVE is a proteome-wide deep generative model to identify and predict pathogenicity of missense mutations causing genetic disorders.
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Reposted by Miquel Anglada-Girotto
Jonathan Frazer @jonnyfrazer.bsky.social · 25/11/2025
LFB is NeurIPS-bound! 🎉 Mafalda, @cwjpugh.bsky.social and I will be in San Diego next week for NeurIPS -- happy to chat variant effect prediction (or just say hi). “From Likelihood to Fitness: Improving Variant Effect Prediction in Protein and Genome Language Models” openreview.net/pdf/a151f62e...
openreview.net
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Reposted by Miquel Anglada-Girotto
Centre de Regulació Genòmica (CRG) @crg.eu · 25/11/2025
Our annual PhD call is closing at the end of this week on 30 November. If you're interested in carrying out world-class scientific research in Barcelona, you still have a few days left to submit your application! www.crg.eu/en/content/t...
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Miquel Anglada-Girotto @m1quelag.bsky.social · 21/11/2025
Very nice!
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Miquel Anglada-Girotto @m1quelag.bsky.social · 25/10/2025
Wouldn’t it be cool to leverage the throughput of single-cell data to study splicing regulation even when we lack exon resolution? 😀 Here’s the peer-reviewed version of our paper on how we can measure changes in splicing factor activity in virtually any single-cell dataset: doi.org/10.1093/nar/...
doi.org
Using single-cell perturbation screens to decode the regulatory architecture of splicing factor programs
Abstract. Splicing factors shape the isoform pool of most transcribed genes, playing a critical role in cellular physiology. Their dysregulation is a hallm
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Miquel Anglada-Girotto @m1quelag.bsky.social · 23/10/2025
Couldn't think of a better place to make models! Come join us!
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Miquel Anglada-Girotto @m1quelag.bsky.social · 15/07/2025
Es Castell
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Reposted by Miquel Anglada-Girotto
bioRxivpreprint @biorxivpreprint.bsky.social · 07/07/2025
An organoid model of the menstrual cycle reveals the role of the luminal epithelium in regeneration of the human endometrium www.biorxiv.org/content/10.1101/202…
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Reposted by Miquel Anglada-Girotto
Anamaria Elek @aelek.bsky.social · 06/07/2025
I am very happy to have posted my first bioRxiv preprint. A long time in the making - and still adding a few final touches to it - but we're excited to finally have it out there in the wild: www.biorxiv.org/content/10.1... Read below for a few highlights...
biorxiv.org
Decoding cnidarian cell type gene regulation
Animal cell types are defined by differential access to genomic information, a process orchestrated by the combinatorial activity of transcription factors that bind to cis -regulatory elements (CREs) to control gene expression. However, the regulatory logic and specific gene networks that define cell identities remain poorly resolved across the animal tree of life. As early-branching metazoans, cnidarians can offer insights into the early evolution of cell type-specific genome regulation. Here, we profiled chromatin accessibility in 60,000 cells from whole adults and gastrula-stage embryos of the sea anemone Nematostella vectensis. We identified 112,728 CREs and quantified their activity across cell types, revealing pervasive combinatorial enhancer usage and distinct promoter architectures. To decode the underlying regulatory grammar, we trained sequence-based models predicting CRE accessibility and used these models to infer ontogenetic relationships among cell types. By integrating sequence motifs, transcription factor expression, and CRE accessibility, we systematically reconstructed the gene regulatory networks that define cnidarian cell types. Our results reveal the regulatory complexity underlying cell differentiation in a morphologically simple animal and highlight conserved principles in animal gene regulation. This work provides a foundation for comparative regulatory genomics to understand the evolutionary emergence of animal cell type diversity. ### Competing Interest Statement The authors have declared no competing interest. European Research Council, https://ror.org/0472cxd90, ERC-StG 851647 Ministerio de Ciencia e Innovación, https://ror.org/05r0vyz12, PID2021-124757NB-I00, FPI Severo Ochoa PhD fellowship European Union, https://ror.org/019w4f821, Marie Skłodowska-Curie INTREPiD co-fund agreement 75442, Marie Skłodowska-Curie grant agreement 101031767
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Jacob Schreiber @jmschreiber91.bsky.social · 18/06/2025
Last week I released bpnet-lite v0.5.0. BPNet/ChromBPNet are powerful models for understanding regulatory genomics from @anshulkundaje.bsky.social's group, and now it's way easier to go from raw data to trained models and analysis + results in PyTorch Try it out with `pip install bpnet-lite`
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Jacob Schreiber @jmschreiber91.bsky.social · 03/06/2025
I wrote a quick application note on Tomtom-lite, a Python implementation of the Tomtom algorithm for comparing PWMs against each other. This implementation can be 10-1000x faster and, as a Python function, can be integrated into your workflows easier. www.biorxiv.org/content/10.1...
biorxiv.org
Tomtom-lite: Accelerating Tomtom enables large-scale and real-time motif similarity scoring
Summary Pairwise sequence similarity is a core operation in genomic analysis, yet most attention has been given to sequences made up of discrete characters. With the growing prevalence of machine lear...
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Reposted by Miquel Anglada-Girotto
EMBL-EBI @ebi.embl.org · 09/06/2025
Polygenic scores (PGS) offer insights into a person’s inherited risk of disease. GeneticScores.org is a new platform that enables secure, cloud-based calculation of polygenic scores to make genomic risk prediction more accessible. www.ebi.ac.uk/about/news/u... 🖥️🧬
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Miquel Anglada-Girotto @m1quelag.bsky.social · 07/06/2025
Today I learned artists study primitive art to understand how art was made out of the art business context. This made me wonder how science would be made nowadays out of the journal publishing context. Would we try to answer different questions?
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Miquel Anglada-Girotto @m1quelag.bsky.social · 26/05/2025
Leveraging evolution to make fitness estimation scale with model size again! Great experiencing the making of this one behind the scenes 🙌
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Reposted by Miquel Anglada-Girotto
Stephen Turner @stephenturner.us · 26/03/2025
polars-bio - fast, scalable and out-of-core operations on large genomic interval datasets www.biorxiv.org/content/10.1... 🧬🖥️🧪 github.com/biodatageeks...
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Miquel Anglada-Girotto @m1quelag.bsky.social · 21/02/2025
How can we leverage Perturb-seq screens to study splicing factor (SF) regulation systematically? Here’s our approach: bsky.app/profile/bior...
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Miquel Anglada-Girotto @m1quelag.bsky.social · 15/02/2025
Hi all! Inspired by how easy ColabFold ( @sokrypton.org ) made prot structure prediction for me, I have started ColabRNA to facilitate making predictions with RNA-based models! Currently, the following models are available: - SpliceAI - Pangolin - SpliceTransformer - Borzoi Happy to get feedback!
github.com
GitHub - MiqG/ColabRNA: Making RNA-based models accessible to all.
Making RNA-based models accessible to all. Contribute to MiqG/ColabRNA development by creating an account on GitHub.
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Reposted by Miquel Anglada-Girotto
Kevin Mitchell @wiringthebrain.bsky.social · 11/02/2025
The Genomic Code: the genome instantiates a generative model of the organism www.cell.com/trends/genet... - really delighted to see this in print in @cp-trendsgenetics.bsky.social! 😊
cell.com
The Genomic Code: the genome instantiates a generative model of the organism
How does the genome encode the form of the organism? What is the nature of this genomic code? Inspired by recent work in machine learning and neuroscience, we propose that the genome encodes a generat...
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Reposted by Miquel Anglada-Girotto
Towards Data Science @towardsdatascience.com · 12/02/2025
Theo Wolf's terrific writeup of the groundbreaking paper introducing Kolmogorov-Arnold Networks.
towardsdatascience.com
Kolmogorov-Arnold Networks: the latest advance in Neural Networks, simply explained
The new type of network that is making waves in the ML world.
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Reposted by Miquel Anglada-Girotto
Carolyn Bertozzi @carolynbertozzi.bskyverified.social · 09/02/2025
Cool paper using LLM to discover a protein sequence code for subcellular localization 👏 www.science.org/doi/10.1126/...
science.org
Protein codes promote selective subcellular compartmentalization
Cells have evolved mechanisms to distribute ~10 billion protein molecules to subcellular compartments where diverse proteins involved in shared functions must assemble. Here, we demonstrate that prote...
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Reposted by Miquel Anglada-Girotto
Anshul Kundaje @anshulkundaje.bsky.social · 24/01/2025
I wanted to write briefly about a very pleasant experience we recently had coordinating and collaborating closely on competing publications with 2 other teams. 1/
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Reposted by Miquel Anglada-Girotto
Stephen Turner @stephenturner.us · 30/12/2024
Build common reference indexes with Nextflow @nf-co.re nf-core/references github.com/nf-core/references 🧬🖥️🧪
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AI x Bio Discovery @aixbiobot.bsky.social · 24/12/2024
A universal tool for chromatin loop annotation in bulk and single-cell Hi-C data [new] Analyzes 3D genome data with a U-shaped network & axial attention to identify loops/structures. Utilizes pretraining, for universal detection.
A universal tool for chromatin loop annotation in bulk and single-cell Hi-C dataFigure 1Figure 2Figure 3
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AI x Bio Discovery @aixbiobot.bsky.social · 26/12/2024
MethylQUEEN: A Methylation Encoded DNA Foundation Model [new] Novel model, MethylQUEEN, learns methylation states from DNA using a transformer, inferring tissue origin, gene expression and key regulatory sites.
MethylQUEEN: A Methylation Encoded DNA Foundation ModelFigure 1Figure 2Figure 3
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Miquel Anglada-Girotto @m1quelag.bsky.social · 29/12/2024
Nice benchmark!
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Miquel Anglada-Girotto @m1quelag.bsky.social · 24/12/2024
Ciutadella, 12/2024
Mallorca view from Ciutadella
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Reposted by Miquel Anglada-Girotto
Dammit Doug Smith @dammitdougsmith.bsky.social · 17/12/2024
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Miquel Anglada-Girotto @m1quelag.bsky.social · 16/12/2024
My new favorite episode!
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MLSB (in San Diego + Copenhagen) @workshopmlsb.bsky.social · 15/12/2024
Check out the paper on biorxiv! www.biorxiv.org/content/10.1...
biorxiv.org
Generating All-Atom Protein Structure from Sequence-Only Training Data
Generative models for protein design are gaining interest for their potential scientific impact. However, protein function is mediated by many modalities, and simultaneously generating multiple modali...
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Reposted by Miquel Anglada-Girotto
Stephen Turner @stephenturner.us · 05/12/2024
What I'm reading this week: WorkflowHub computational workflow registry, building a virtual cell with AI, bioinformatics for prioritizing causal variants, DL methods for nanopore variant calling, predicting gene expression, ... blog.stephenturner.us/p/weekly-reca… 🧬🖥️🧪
blog.stephenturner.us
Weekly Recap (Nov 2024, part 4)
WorkflowHub computational workflow registry, building a virtual cell with AI, bioinformatics for prioritizing causal variants, DL methods for nanopore variant calling, predicting gene expression, ...
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Nuria Lopez-Bigas @nlbigas.bsky.social · 09/12/2024
**Clinical Cancer Genomics Conference** First of an annual recurring series. It will be a very important meeting for the advance of clinical implementation of cancer genomics. Proud to be part of it. March 20th-21st 2025 in Amsterdam. Registration open: www.ccg2025.eu #CCG2025
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Miquel Anglada-Girotto @m1quelag.bsky.social · 09/12/2024
Low tie in Fanø
Tree next to low tie beach with lots of vegetation
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Red Easter Rabbit @therabbitkyle.bsky.social · 07/12/2024
I love Mad Magazine
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Miquel Anglada-Girotto @m1quelag.bsky.social · 08/12/2024
Using dnn training dynamics for single cell annotation
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Bart Deplancke @bartdeplancke.bsky.social · 08/12/2024
Major milestone: Tabula Sapiens 2.0 maps tissue composition & TF expression in 175 cell types, identifying 745 ubiquitous & 890 cell type-specific TFs (many still uncharacterized -> #Codebook) w/ roles in tissue homeostasis, stress response & metabolism. #SingleCell www.biorxiv.org/content/10.1...
biorxiv.org
Tabula Sapiens reveals transcription factor expression, senescence effects, and sex-specific features in cell types from 28 human organs and tissues
The Tabula Sapiens is a reference human cell atlas containing single cell transcriptomic data from more than two dozen organs and tissues. Here we report Tabula Sapiens 2.0 which includes data from ni...
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